Abstract

Public Health Relevance

The reference human genome sequence is a powerful tool for research. However; portions of the sequence remain incorrect or missing. Also; ethnically diverse genome sequence data from several individuals will be added so that the reference genome sequence will be more useful for a broader number of experimental and clinical applications. In addition to remedying these problems; we will also provide community training.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Biotechnology Resource Cooperative Agreements (U41)
Project #
7U41HG007635-04
Application #
9428008
Study Section
Special Emphasis Panel (ZHG1-HGR-M (J2))
Program Officer
Felsenfeld, Adam
Project Start
2016-10-01
Project End
2017-06-30
Budget Start
2016-10-01
Budget End
2017-06-30
Support Year
4
Fiscal Year
2016
Total Cost
$2,098,446
Indirect Cost
$190,396

  Institution

Name
Nationwide Children's Hospital
Department
Type
Research Institutes
DUNS #
147212963
City
Columbus
State
OH
Country
United States
Zip Code
43205

  Publications

Kronenberg, Zev N; Fiddes, Ian T; Gordon, David et al. (2018) High-resolution comparative analysis of great ape genomes. Science 360:
Fiddes, Ian T; Armstrong, Joel; Diekhans, Mark et al. (2018) Comparative Annotation Toolkit (CAT)-simultaneous clade and personal genome annotation. Genome Res 28:1029-1038
Cantsilieris, Stuart; Nelson, Bradley J; Huddleston, John et al. (2018) Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family. Proc Natl Acad Sci U S A 115:E4433-E4442
Schneider, Valerie A; Graves-Lindsay, Tina; Howe, Kerstin et al. (2017) Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res 27:849-864
Huddleston, John; Chaisson, Mark J P; Steinberg, Karyn Meltz et al. (2017) Discovery and genotyping of structural variation from long-read haploid genome sequence data. Genome Res 27:677-685
Dennis, Megan Y; Harshman, Lana; Nelson, Bradley J et al. (2017) The evolution and population diversity of human-specific segmental duplications. Nat Ecol Evol 1:69
Shi, Lingling; Guo, Yunfei; Dong, Chengliang et al. (2016) Long-read sequencing and de novo assembly of a Chinese genome. Nat Commun 7:12065
Mohajeri, Kiana; Cantsilieris, Stuart; Huddleston, John et al. (2016) Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region. Genome Res 26:1453-1467
Gordon, David; Huddleston, John; Chaisson, Mark J P et al. (2016) Long-read sequence assembly of the gorilla genome. Science 352:aae0344
Chaisson, Mark J P; Huddleston, John; Dennis, Megan Y et al. (2015) Resolving the complexity of the human genome using single-molecule sequencing. Nature 517:608-11

Showing the most recent 10 out of 13 publications